NR5A1-related sex development disorder
MONDO:1060211Mondo
Findings
No curated finding names NR5A1-related sex development disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female.
Definition from the Mondo Disease Ontology (MONDO:1060211), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR5A1HGNC:7983
- Definitive · ClinGen · Autosomal dominant · 2026